A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv172n27



Internal ID22766901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134474835..134864402hg38UCSC Ensembl
chr11:134344729..134734296hg19UCSC Ensembl
chr11:133849939..134239506hg18UCSC Ensembl
chr11:133849939..134239506hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38389568
hg19389568
hg18389568
hg17389568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468921, nsv468917, nsv468929, nsv468924, nsv468923, nsv468913, nsv468919, nsv468920, nsv468922, nsv468918
Samples1780862484_A, 1782681210_A, 1780854445_A, 1780862540_A, NINDS_135, NINDS_147, 1780854467_A, 1780862388_A, 1798860280_A, HGDP00671
Known GenesLOC283177
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv172n27
Frequency
Sample Size1557
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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